GTPBP1

Protein identityUniProt · HPA

UniProt accession

O00178

Gene

GTPBP1

Ensembl

ENSG00000100226

Chromosome

22

Canonical length

669 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nuclear bodies,Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

669 residues, UniProt reviewed canonical sequence.

>O00178|GTPBP1
     1  MATERSRSAM DSPVPASMFA PEPSSPGAAR AAAAAARLHG GFDSDCSEDG EALNGEPELD
    61  LTSKLVLVSP TSEQYDSLLR QMWERMDEGC GETIYVIGQG SDGTEYGLSE ADMEASYATV
   121  KSMAEQIEAD VILLRERQEA GGRVRDYLVR KRVGDNDFLE VRVAVVGNVD AGKSTLLGVL
   181  THGELDNGRG FARQKLFRHK HEIESGRTSS VGNDILGFDS EGNVVNKPDS HGGSLEWTKI
   241  CEKSTKVITF IDLAGHEKYL KTTVFGMTGH LPDFCMLMVG SNAGIVGMTK EHLGLALALN
   301  VPVFVVVTKI DMCPANILQE TLKLLQRLLK SPGCRKIPVL VQSKDDVIVT ASNFSSERMC
   361  PIFQISNVTG ENLDLLKMFL NLLSPRTSYR EEEPAEFQID DTYSVPGVGT VVSGTTLRGL
   421  IKLNDTLLLG PDPLGNFLSI AVKSIHRKRM PVKEVRGGQT ASFALKKIKR SSIRKGMVMV
   481  SPRLNPQASW EFEAEILVLH HPTTISPRYQ AMVHCGSIRQ TATILSMDKD CLRTGDKATV
   541  HFRFIKTPEY LHIDQRLVFR EGRTKAVGTI TKLLQTTNNS PMNSKPQQIK MQSTKKGPLT
   601  KRDEGGPSGG PAVGAPPPGD EASSVGAGQP AASSNLQPQP KPSSGGRRRG GQRHKVKSQG
   661  ACVTPASGC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTPBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

100 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GTPBP1.

Disease | AllUniProt

Conditions GTPBP1 is implicated in, by any mechanism.

• Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 (NEDFET1) MIM:620888

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 90 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1

Disease | AutoantibodyPubMed

Conditions in which antibodies against GTPBP1 are reported. Each links to that disease's full target list.

• Antiphospholipid Syndrome 6
• Abortion, Habitual 3
• Thrombosis 3

ReferencesPubMed · IEDB

Publications for GTPBP1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.35

gnomAD pLI

0.93

gnomAD missense Z

3.36

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cytoplasmic translation
• GTP metabolic process
• immune response
• positive regulation of mRNA catabolic process
• RNA surveillance
• signal transduction
• translational elongation

Molecular functions

• alpha-aminoacyl-tRNA binding
• GTP binding
• GTPase activity
• RNA binding
• translation elongation factor activity
• tRNA binding

Cellular components

• cytoplasmic exosome (RNase complex)
• cytosol
• membrane

Protein domainsUniProt · Pfam · InterPro

• Translational (tr)-type GTP-binding domain
• Translation elongation factor EFTu-like, domain 2
• Translation protein, beta-barrel domain superfamily
• Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal
• P-loop containing nucleoside triphosphate hydrolase
• GTP binding protein 1-like, GTP-binding domain
• Elongation factor Tu GTPase
• Elongation factor Tu GTP binding domain
• Elongation factor Tu domain 2

KeywordsUniProt

• Cytoplasm
• GTP-binding
• Hydrolase
• Intellectual disability
• Nucleotide-binding
• Phosphoprotein
• RNA-binding

InteractionsUniProt · HPA

Protein binding partners of GTPBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HNRNPD
• HNRNPR
• SYNCRIP
• EXOSC5
• EXOSC3
• EXOSC2